The conditions include Noonan spectrum disorders (NSD), skeletal disorders, craniosynostosis syndromes, Cornelia de Lange syndrome (CdLS), Alagille syndrome, tuberous sclerosis, epileptic encephalopathy, SYNGAP1‐related intellectual disability, CHARGE syndrome, Sotos syndrome and Rett syndrome. Here, SYNGAP1 is linked to Cornelia de Lange syndrome.